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Zinc finger protein 512B (ZNF512B)
- Target
- ZNF512B
- Molecular classification
- Transcription factor, C2H2-type zinc finger protein, Protein coding gene
01
Overview
Zinc finger protein 512B (ZNF512B) is a protein-coding gene encoding a member of the C2H2-type zinc finger protein family, which are classical transcription factors. ZNF512B binds DNA and is predicted to act predominantly as a transcriptional repressor, particularly in the regulation of genes transcribed by RNA polymerase II, including the negative regulation of microRNA transcription. It is located in the nucleus or nucleoplasm and is expressed in various human tissues. ZNF512B has been implicated as a positive regulator of TGF-β signaling, and genetic variants reducing its expression are associated with increased susceptibility to amyotrophic lateral sclerosis (ALS), pointing to a potential role in neurodegenerative disease pathogenesis. However, there is currently no evidence that ZNF512B is a direct therapeutic target, interacts with any approved drugs, or is used as a clinical biomarker. ZNF512B’s main biological relevance is its role as a transcription factor involved in gene regulation, consistent with other C2H2 zinc finger proteins, which are widespread and functionally diverse.
- Other names
- KIAA1196GM632MGC149845MGC149846ZNF512B proteinznf512bzinc finger protein 512B
02
Biological functions
Transcriptional regulation (especially negative regulation of miRNA transcription)DNA bindingMetal ion (zinc) bindingRegulator of TGF-β signaling (positive regulation)Likely involvement in cell differentiation and other typical ZFP functions
03
Disease associations
Neurodegenerative disease (associated with susceptibility to amyotrophic lateral sclerosis, ALS)Possible role in thyroid hormone resistance and frontotemporal dementia/ALS (as reported in genetic studies)
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